Article
A Novel PAX3 Mutation in a Chinese Family with Waardenburg Syndrome Type 1.
Genetic testing and molecular biomarkers - 1 May 2020
Li Shuling, Guo Min, Ruan Biao, Liu Ya, Cui Xin, Han Weiwei, Li Ruomei
Abstract excerpt
Aims: To determine the clinical characteristics and genetic cause of Waardenburg syndrome type 1 (WS1) in a Chinese family. Materials and Methods: Evaluations, including history, clinical features, and audiological tests, were performed on the proband and her parents. Genetic analyses were performed targeting 144 known deafness genes using a next-generation sequencing panel. Bioinformatic analyses were used to...
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